Hb Queens[α34(B15)Leu→Arg] 가족 1례

Abstract

A 36-year-old pregnant woman with gestational diabetes mellitus and anemia was found to have an abnormal Hb(comprising 18.7%) in the automated midget low pressure cation-exchange chromatography(DiaSTAT TM, Bio-Rad, USA) for Hb A1c assay. The abnormal Hb revealed an abnormal peak emerged slightly later than normal Hb A1 in DiaSTAT TM chromatogram, subsequently confirmed by cellulose acetate membrane electrophoresis and isoelectric focusing. This hemoglobinopathy with high isoelectric point was noted and abnormal α chain globin was prepared by chromatography. Family study was carried out and this α chain variant was also found in four other family members, and all of them had no clinical abnormalities, except well controlled diabetes. As the results from peptide mapping, amino acid analysis and sequencing, abnormal Hb of the patient was finally identified as Hb Queens[α34(B15)Leu→Arg] without clinical abnormalities.